Abnormalities, Multiple - 435 Studies Found

Terminated : Genetics and Psychopathology in the 22q11 Deletion Syndrome
: Chromosome 22q11.2 Deletion Syndrome
: 2005-09-08
Completed : Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
: Smith-Lemli-Opitz Syndrome
: 2005-06-15
:
  • Dietary Supplement: Egg yolk preparation with cholesterol

Active, not recruiting : Natural History and Genetic Studies of Usher Syndrome
:
  • Retinitis Pigmentosa Syndromic
  • Congenital Deafness
  • Usher S
    : 2005-03-29
Completed : Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
:
  • DiGeorge Syndrome
  • Velocardiofacial Syndrome
  • 22q11.2 Syndro
    : 2005-03-10
Recruiting : Clinical and Genetic Studies on Holoprosencephaly
: Holoprosencephaly
: 2004-07-23
Terminated : Genetics and Clinical Characteristics of Bardet-Biedl Syndrome
: Bardet-Biedl Syndrome
: 2004-02-18
Completed : Prenatal Screening For Smith-Lemli-Opitz Syndrome
:
  • Smith-Lemli-Opitz Syndrome
  • Pregnancy

: 2003-10-08
Active, not recruiting : Clinical and Molecular Investigations Into Ciliopathies
:
  • Autosomal Recessive Polycystic Kidney Disease
  • Congenital Hepatic Fibrosis
  • Prader-Willi Syndrome
  • Self-Injurious Behavior

: 2003-08-01
: Drug: Topiramate
Completed : Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
: Smith-Lemli-Opitz Syndrome
: 2003-07-11
:
  • Drug: Simvastatin Susp. During
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